List of works - Giuseppe Borsani

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

scientific article

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

scientific article

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

scientific article

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

scientific article (publication date: March 1999)

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

scientific article

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

scientific article

Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-

scientific journal article

EYA4, a novel vertebrate gene related to Drosophila eyes absent

scientific article

The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.

scientific article published in February 2000

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family

scientific article

NF-kappaB pathway: a target for preventing beta-amyloid (Abeta)-induced neuronal damage and Abeta42 production

scientific article (publication date: April 2006)

The molecular bases of cystinuria and lysinuric protein intolerance.

scientific article published in June 2001

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

scientific article published in June 2004

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

scientific article

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

scientific article

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

scientific article

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

scientific article

Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules

scientific article published on 12 November 2003

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

scientific article

Sialidase NEU3 is a peripheral membrane protein localized on the cell surface and in endosomal structures

scientific article

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

scientific article

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

scientific article published in 2000

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

scientific journal article

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

scientific article published on July 1998

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

scientific article

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

scientific article published on August 30, 2012

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

scientific article (publication date: 2012)

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease

scientific article published on 14 October 2015

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

scientific article published on February 2013

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

scientific article

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

scientific article

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

scientific article published on 7 January 2005

TargetFinder: searching annotated sequence databases for target genes of transcription factors

article

Characterization of the AP-1 μ1A and μ1B adaptins in zebrafish (Danio rerio).

scientific article published on September 2010

How to get the best of dbEST

scientific article published on 01 February 1998

Molecular cloning and biochemical characterization of sialidases from zebrafish (Danio rerio).

scientific article published on December 2007

The amino acid transporter asc-1 is not involved in cystinuria

scientific article

Gene expression profile in fibroblasts of Huntington's disease patients and controls.

scientific article published on 21 November 2013

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

scientific article published on 28 June 2018

SNP prioritization using a Bayesian probability of association

scientific article published on 26 December 2012

Drosophila-related expressed sequences

scientific article published on January 1997

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

scientific article

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

scientific article published on January 2013

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family

scientific journal article

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

scientific article published in January 2011

Analysis of three μ1-AP1 subunits during zebrafish development

scientific article published on 2 December 2013

Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein

scientific article (publication date: 1998)

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

scientific article published on 24 January 2014

Detection of beta-nerve growth factor mRNA in the human fetal brain.

scientific article published in June 1990

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

scientific article

List of works by Giuseppe Borsani

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-

EYA4, a novel vertebrate gene related to Drosophila eyes absent

The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family

NF-kappaB pathway: a target for preventing beta-amyloid (Abeta)-induced neuronal damage and Abeta42 production

The molecular bases of cystinuria and lysinuric protein intolerance.

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

Sialidase NEU3 is a peripheral membrane protein localized on the cell surface and in endosomal structures

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

TargetFinder: searching annotated sequence databases for target genes of transcription factors

Characterization of the AP-1 μ1A and μ1B adaptins in zebrafish (Danio rerio).

How to get the best of dbEST

Molecular cloning and biochemical characterization of sialidases from zebrafish (Danio rerio).

The amino acid transporter asc-1 is not involved in cystinuria

Gene expression profile in fibroblasts of Huntington's disease patients and controls.

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

SNP prioritization using a Bayesian probability of association

Drosophila-related expressed sequences

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Analysis of three μ1-AP1 subunits during zebrafish development

Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

Detection of beta-nerve growth factor mRNA in the human fetal brain.

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype